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Amir Jahic

Showing results (11-20 of 16) with videos related to

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Orphanet Journal of Rare Diseases|November 18, 2015
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, et al.
Plos Genetics|December 25, 2013
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemMukhran Khundadze, Katrin Kollmann, Nicole Koch, et al.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)Allison Gregory, Mitesh Lotia, Suh Young Jeong, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Orphanet Journal of Rare Diseases|November 18, 2015
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, et al.
Plos Genetics|December 25, 2013
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemMukhran Khundadze, Katrin Kollmann, Nicole Koch, et al.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)Allison Gregory, Mitesh Lotia, Suh Young Jeong, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics|December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotypeThomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
Pageof 2